| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1 | 36478315 | intron variant | C/G | snv | 0.59 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 161976937 | intergenic variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 159549102 | intergenic variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 159092646 | intron variant | G/A | snv | 0.60 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 109928142 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 159001296 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 159313100 | downstream gene variant | TTTTTTTTTTTTTT/-;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT | delins | 7.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 23523531 | intron variant | G/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 150810982 | 3 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 198694532 | 3 prime UTR variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 183175588 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 65683658 | intergenic variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 198842243 | intron variant | G/A;T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 119963373 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 93012974 | downstream gene variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 150602219 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 150623061 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 64947147 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 47227548 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |